ATP6V0C (ATPase H+ transporting V0 subunit c)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 527
• Gene name: ATPase H+ transporting V0 subunit c
• Gene symbol: ATP6V0C
• Synonyms (NCBI Gene): ATP6C, ATP6L, ATPL, EPEO3, VATL, VPPC, Vma3
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort

miRNA Show/Hide all (187)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039438	hsa-miR-421	CLASH	23622248
MIRT808685	hsa-miR-1	CLIP-seq
MIRT808686	hsa-miR-1197	CLIP-seq
MIRT808687	hsa-miR-1251	CLIP-seq
MIRT808688	hsa-miR-1254	CLIP-seq
MIRT808689	hsa-miR-1273	CLIP-seq
MIRT808690	hsa-miR-1293	CLIP-seq
MIRT808691	hsa-miR-1299	CLIP-seq
MIRT808692	hsa-miR-138	CLIP-seq
MIRT808693	hsa-miR-1538	CLIP-seq
MIRT808694	hsa-miR-154	CLIP-seq
MIRT808695	hsa-miR-1908	CLIP-seq
MIRT808696	hsa-miR-1972	CLIP-seq
MIRT808697	hsa-miR-206	CLIP-seq
MIRT808698	hsa-miR-2861	CLIP-seq
MIRT808699	hsa-miR-3116	CLIP-seq
MIRT808700	hsa-miR-3141	CLIP-seq
MIRT808701	hsa-miR-3150b-3p	CLIP-seq
MIRT808702	hsa-miR-3151	CLIP-seq
MIRT808703	hsa-miR-3155	CLIP-seq
MIRT808704	hsa-miR-3155b	CLIP-seq
MIRT808705	hsa-miR-3180	CLIP-seq
MIRT808706	hsa-miR-3180-3p	CLIP-seq
MIRT808707	hsa-miR-3192	CLIP-seq
MIRT808708	hsa-miR-3195	CLIP-seq
MIRT808709	hsa-miR-3196	CLIP-seq
MIRT808710	hsa-miR-323-5p	CLIP-seq
MIRT808711	hsa-miR-3616-3p	CLIP-seq
MIRT808712	hsa-miR-3652	CLIP-seq
MIRT808713	hsa-miR-3673	CLIP-seq
MIRT808714	hsa-miR-3914	CLIP-seq
MIRT808715	hsa-miR-3918	CLIP-seq
MIRT808716	hsa-miR-3922-5p	CLIP-seq
MIRT808717	hsa-miR-3960	CLIP-seq
MIRT808718	hsa-miR-4254	CLIP-seq
MIRT808719	hsa-miR-4261	CLIP-seq
MIRT808720	hsa-miR-4278	CLIP-seq
MIRT808721	hsa-miR-4430	CLIP-seq
MIRT808722	hsa-miR-4456	CLIP-seq
MIRT808723	hsa-miR-4457	CLIP-seq
MIRT808724	hsa-miR-4467	CLIP-seq
MIRT808725	hsa-miR-4474-3p	CLIP-seq
MIRT808726	hsa-miR-4483	CLIP-seq
MIRT808727	hsa-miR-4488	CLIP-seq
MIRT808728	hsa-miR-4505	CLIP-seq
MIRT808729	hsa-miR-4651	CLIP-seq
MIRT808730	hsa-miR-4687-3p	CLIP-seq
MIRT808731	hsa-miR-4689	CLIP-seq
MIRT808732	hsa-miR-4697-5p	CLIP-seq
MIRT808733	hsa-miR-4708-3p	CLIP-seq
MIRT808734	hsa-miR-4710	CLIP-seq
MIRT808735	hsa-miR-4716-3p	CLIP-seq
MIRT808736	hsa-miR-4721	CLIP-seq
MIRT808737	hsa-miR-4745-3p	CLIP-seq
MIRT808738	hsa-miR-4778-5p	CLIP-seq
MIRT808739	hsa-miR-4779	CLIP-seq
MIRT808740	hsa-miR-4782-5p	CLIP-seq
MIRT808741	hsa-miR-4784	CLIP-seq
MIRT808742	hsa-miR-484	CLIP-seq
MIRT808743	hsa-miR-516b	CLIP-seq
MIRT808744	hsa-miR-545	CLIP-seq
MIRT808745	hsa-miR-592	CLIP-seq
MIRT808746	hsa-miR-597	CLIP-seq
MIRT808747	hsa-miR-606	CLIP-seq
MIRT808748	hsa-miR-608	CLIP-seq
MIRT808749	hsa-miR-613	CLIP-seq
MIRT808750	hsa-miR-637	CLIP-seq
MIRT808751	hsa-miR-663	CLIP-seq
MIRT808752	hsa-miR-665	CLIP-seq
MIRT808753	hsa-miR-873	CLIP-seq
MIRT808754	hsa-miR-875-3p	CLIP-seq
MIRT808755	hsa-miR-937	CLIP-seq
MIRT808705	hsa-miR-3180	CLIP-seq
MIRT808706	hsa-miR-3180-3p	CLIP-seq
MIRT808709	hsa-miR-3196	CLIP-seq
MIRT808717	hsa-miR-3960	CLIP-seq
MIRT808724	hsa-miR-4467	CLIP-seq
MIRT808727	hsa-miR-4488	CLIP-seq
MIRT808732	hsa-miR-4697-5p	CLIP-seq
MIRT808747	hsa-miR-606	CLIP-seq
MIRT808750	hsa-miR-637	CLIP-seq
MIRT808687	hsa-miR-1251	CLIP-seq
MIRT808689	hsa-miR-1273	CLIP-seq
MIRT808694	hsa-miR-154	CLIP-seq
MIRT808723	hsa-miR-4457	CLIP-seq
MIRT808685	hsa-miR-1	CLIP-seq
MIRT808687	hsa-miR-1251	CLIP-seq
MIRT808688	hsa-miR-1254	CLIP-seq
MIRT808690	hsa-miR-1293	CLIP-seq
MIRT808691	hsa-miR-1299	CLIP-seq
MIRT808694	hsa-miR-154	CLIP-seq
MIRT808697	hsa-miR-206	CLIP-seq
MIRT808698	hsa-miR-2861	CLIP-seq
MIRT1938857	hsa-miR-296-5p	CLIP-seq
MIRT808699	hsa-miR-3116	CLIP-seq
MIRT808701	hsa-miR-3150b-3p	CLIP-seq
MIRT808702	hsa-miR-3151	CLIP-seq
MIRT808705	hsa-miR-3180	CLIP-seq
MIRT808706	hsa-miR-3180-3p	CLIP-seq
MIRT1938858	hsa-miR-3184	CLIP-seq
MIRT808707	hsa-miR-3192	CLIP-seq
MIRT808708	hsa-miR-3195	CLIP-seq
MIRT808709	hsa-miR-3196	CLIP-seq
MIRT808710	hsa-miR-323-5p	CLIP-seq
MIRT808713	hsa-miR-3673	CLIP-seq
MIRT1938859	hsa-miR-423-5p	CLIP-seq
MIRT808718	hsa-miR-4254	CLIP-seq
MIRT808720	hsa-miR-4278	CLIP-seq
MIRT1938860	hsa-miR-4481	CLIP-seq
MIRT808726	hsa-miR-4483	CLIP-seq
MIRT808729	hsa-miR-4651	CLIP-seq
MIRT808731	hsa-miR-4689	CLIP-seq
MIRT808735	hsa-miR-4716-3p	CLIP-seq
MIRT1938861	hsa-miR-4745-5p	CLIP-seq
MIRT1938862	hsa-miR-4758-5p	CLIP-seq
MIRT808739	hsa-miR-4779	CLIP-seq
MIRT808740	hsa-miR-4782-5p	CLIP-seq
MIRT808741	hsa-miR-4784	CLIP-seq
MIRT808743	hsa-miR-516b	CLIP-seq
MIRT808748	hsa-miR-608	CLIP-seq
MIRT808749	hsa-miR-613	CLIP-seq
MIRT808753	hsa-miR-873	CLIP-seq
MIRT808754	hsa-miR-875-3p	CLIP-seq
MIRT808738	hsa-miR-4778-5p	CLIP-seq
MIRT808685	hsa-miR-1	CLIP-seq
MIRT808686	hsa-miR-1197	CLIP-seq
MIRT808687	hsa-miR-1251	CLIP-seq
MIRT808689	hsa-miR-1273	CLIP-seq
MIRT808690	hsa-miR-1293	CLIP-seq
MIRT808691	hsa-miR-1299	CLIP-seq
MIRT808694	hsa-miR-154	CLIP-seq
MIRT808696	hsa-miR-1972	CLIP-seq
MIRT808697	hsa-miR-206	CLIP-seq
MIRT808700	hsa-miR-3141	CLIP-seq
MIRT808701	hsa-miR-3150b-3p	CLIP-seq
MIRT808702	hsa-miR-3151	CLIP-seq
MIRT808705	hsa-miR-3180	CLIP-seq
MIRT808706	hsa-miR-3180-3p	CLIP-seq
MIRT808707	hsa-miR-3192	CLIP-seq
MIRT808708	hsa-miR-3195	CLIP-seq
MIRT808709	hsa-miR-3196	CLIP-seq
MIRT808710	hsa-miR-323-5p	CLIP-seq
MIRT808713	hsa-miR-3673	CLIP-seq
MIRT808714	hsa-miR-3914	CLIP-seq
MIRT808715	hsa-miR-3918	CLIP-seq
MIRT808716	hsa-miR-3922-5p	CLIP-seq
MIRT808719	hsa-miR-4261	CLIP-seq
MIRT808720	hsa-miR-4278	CLIP-seq
MIRT808723	hsa-miR-4457	CLIP-seq
MIRT808726	hsa-miR-4483	CLIP-seq
MIRT2178024	hsa-miR-4520a-3p	CLIP-seq
MIRT2178025	hsa-miR-4520b-3p	CLIP-seq
MIRT808729	hsa-miR-4651	CLIP-seq
MIRT2178026	hsa-miR-4672	CLIP-seq
MIRT808730	hsa-miR-4687-3p	CLIP-seq
MIRT808731	hsa-miR-4689	CLIP-seq
MIRT808735	hsa-miR-4716-3p	CLIP-seq
MIRT808739	hsa-miR-4779	CLIP-seq
MIRT808740	hsa-miR-4782-5p	CLIP-seq
MIRT808741	hsa-miR-4784	CLIP-seq
MIRT2178027	hsa-miR-4799-5p	CLIP-seq
MIRT808743	hsa-miR-516b	CLIP-seq
MIRT808744	hsa-miR-545	CLIP-seq
MIRT808747	hsa-miR-606	CLIP-seq
MIRT808748	hsa-miR-608	CLIP-seq
MIRT808749	hsa-miR-613	CLIP-seq
MIRT808753	hsa-miR-873	CLIP-seq
MIRT808754	hsa-miR-875-3p	CLIP-seq
MIRT808755	hsa-miR-937	CLIP-seq
MIRT808687	hsa-miR-1251	CLIP-seq
MIRT808688	hsa-miR-1254	CLIP-seq
MIRT808689	hsa-miR-1273	CLIP-seq
MIRT808694	hsa-miR-154	CLIP-seq
MIRT808698	hsa-miR-2861	CLIP-seq
MIRT808699	hsa-miR-3116	CLIP-seq
MIRT808702	hsa-miR-3151	CLIP-seq
MIRT808705	hsa-miR-3180	CLIP-seq
MIRT808706	hsa-miR-3180-3p	CLIP-seq
MIRT808708	hsa-miR-3195	CLIP-seq
MIRT808709	hsa-miR-3196	CLIP-seq
MIRT808714	hsa-miR-3914	CLIP-seq
MIRT808718	hsa-miR-4254	CLIP-seq
MIRT808723	hsa-miR-4457	CLIP-seq
MIRT808729	hsa-miR-4651	CLIP-seq
MIRT808744	hsa-miR-545	CLIP-seq
MIRT808748	hsa-miR-608	CLIP-seq
MIRT808753	hsa-miR-873	CLIP-seq

Gene ontology (GO) Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	32001091
GO:0000220	Component	Vacuolar proton-transporting V-type ATPase, V0 domain	ISS
GO:0005515	Function	Protein binding	IPI	1334459, 11543633, 20093472, 21988832, 25416956, 31515488, 32296183, 32814053, 33961781
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	NAS	32001091
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005886	Component	Plasma membrane	NAS	32001091
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007035	Process	Vacuolar acidification	NAS	32001091
GO:0007042	Process	Lysosomal lumen acidification	NAS	32001091, 33065002
GO:0010008	Component	Endosome membrane	NAS	32001091
GO:0010008	Component	Endosome membrane	TAS
GO:0015078	Function	Proton transmembrane transporter activity	IEA
GO:0015986	Process	Proton motive force-driven ATP synthesis	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	33065002
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1709739
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IMP	20093472
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	18298843
GO:0033176	Component	Proton-transporting V-type ATPase complex	IEA
GO:0033176	Component	Proton-transporting V-type ATPase complex	NAS	33065002
GO:0033177	Component	Proton-transporting two-sector ATPase complex, proton-transporting domain	IEA
GO:0033179	Component	Proton-transporting V-type ATPase, V0 domain	IEA
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0045202	Component	Synapse	IEA
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	TAS	1709739
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	TAS	1709739
GO:0048388	Process	Endosomal lumen acidification	NAS	32001091
GO:0051452	Process	Intracellular pH reduction	NAS	32001091
GO:0061795	Process	Golgi lumen acidification	NAS	32001091
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0097401	Process	Synaptic vesicle lumen acidification	IEA
GO:0098588	Component	Bounding membrane of organelle	IEA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	NAS	33065002
GO:1902600	Process	Proton transmembrane transport	TAS	1709739

Other IDs

• MIM: 108745
• HGNC: 855
• e!Ensembl: ENSG00000185883

Protein

• UniProt ID: P27449
• Protein name: V-type proton ATPase 16 kDa proteolipid subunit c (V-ATPase 16 kDa proteolipid subunit c) (Vacuolar proton pump 16 kDa proteolipid subunit c)
• Protein function: Proton-conducting pore forming subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33
• PDB: 6WLW , 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00137	ATP-synt_C	93 → 152	ATP synthase subunit C	Family
  PF00137	ATP-synt_C	17 → 76	ATP synthase subunit C	Family

• Sequence:

  MSESKSGPEYASFFAVMGASAAMVFSALGAAYGTAKSGTGIAAMSVMRPEQIMKSIIPVV
  MAGIIAIYGLVVAVLIANSLNDDISLYKSFLQLGAGLSVGLSGLAAGFAIGIVGDAGVRG
  TAQQPRLFVGMILILIFAEVLGLYGLIVALILSTK

• Sequence length: 155

Pathways

KEGG Pathway	Reactome Pathway
Oxidative phosphorylation	ROS and RNS production in phagocytes
Metabolic pathways	Neutrophil degranulation
Lysosome	Insulin receptor recycling
Phagosome	Transferrin endocytosis and recycling
Synaptic vesicle cycle	Amino acids regulate mTORC1
Collecting duct acid secretion	Ion channel transport
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Tuberculosis
Human papillomavirus infection
Rheumatoid arthritis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY	Pathogenic	rs2505557619, rs2505557763, rs2505558718, rs2505559108, rs2505559214, rs2065899210	RCV003320494 RCV003320495 RCV003320496 RCV003320497 RCV003320498 RCV003320483	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy, early-onset, 3, with or without developmental delay	Pathogenic	rs2505548999, rs2505558964, rs2505557999	RCV003320499 RCV003320500 RCV003320501	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs2065899210	RCV001254940	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CHILDHOOD-ONSET EPILEPSY SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GenCC	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (22)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	36074901	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	30884810	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	36074901	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30420612, 31840304		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30245510, 36074901, 40085430	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	40085430	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30245510, 36074901, 40085430	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31554233		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31554233		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	31554233	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31554233	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30245510	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16061667, 22962303		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31554233		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29138865		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16061667, 29138865, 30420612		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30245510	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31840304		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	Pubtator	12929941	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29138865		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26196085	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36074901	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

TCIRG1 14 shared pathwaysOxidative phosphorylation, Lysosome, Phagosome, Synaptic vesicle cycle, Collecting duct acid secretion, Vibrio cholerae infection, Epithelial cell signaling in Helicobacter pylori infection, Tuberculosis, Rheumatoid arthritis, ROS and RNS production in phagocytes, Insulin receptor recycling, Transferrin endocytosis and recycling +2 more Related via 14 shared pathways including Oxidative phosphorylation, Lysosome. ATP6V0D2 14 shared pathwaysOxidative phosphorylation, Lysosome, Phagosome, Synaptic vesicle cycle, Collecting duct acid secretion, Vibrio cholerae infection, Epithelial cell signaling in Helicobacter pylori infection, Tuberculosis, Rheumatoid arthritis, ROS and RNS production in phagocytes, Insulin receptor recycling, Transferrin endocytosis and recycling +2 more Related via 14 shared pathways including Oxidative phosphorylation, Lysosome. ATP6V0A1 1 shared diseaseDevelopmental and epileptic encephalopathy 13 shared pathwaysOxidative phosphorylation, Lysosome, Phagosome, Synaptic vesicle cycle, Collecting duct acid secretion, Vibrio cholerae infection, Epithelial cell signaling in Helicobacter pylori infection, Tuberculosis, Rheumatoid arthritis, ROS and RNS production in phagocytes, Insulin receptor recycling, Transferrin endocytosis and recycling +1 more 1 shared evidence sourceDisgenet (Developmental and epileptic encephalopathy) Related via 13 shared pathways including Oxidative phosphorylation, Lysosome — evidence mostly Disgenet. ATP6V0A2 13 shared pathwaysOxidative phosphorylation, Lysosome, Phagosome, Synaptic vesicle cycle, Collecting duct acid secretion, Vibrio cholerae infection, Epithelial cell signaling in Helicobacter pylori infection, Tuberculosis, Rheumatoid arthritis, ROS and RNS production in phagocytes, Insulin receptor recycling, Transferrin endocytosis and recycling +1 more Related via 13 shared pathways including Oxidative phosphorylation, Lysosome. ATP6V0A4 13 shared pathwaysOxidative phosphorylation, Lysosome, Phagosome, Synaptic vesicle cycle, Collecting duct acid secretion, Vibrio cholerae infection, Epithelial cell signaling in Helicobacter pylori infection, Tuberculosis, Rheumatoid arthritis, ROS and RNS production in phagocytes, Insulin receptor recycling, Transferrin endocytosis and recycling +1 more Related via 13 shared pathways including Oxidative phosphorylation, Lysosome.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TCIRG1	0	[]	14	["Oxidative phosphorylation","Lysosome","Phagosome","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Tuberculosis","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling"]	0	[]
ATP6V0D2	0	[]	14	["Oxidative phosphorylation","Lysosome","Phagosome","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Tuberculosis","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling"]	0	[]
ATP6V0A1	1	["Developmental and epileptic encephalopathy"]	13	["Oxidative phosphorylation","Lysosome","Phagosome","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Tuberculosis","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling"]	1	["Disgenet (Developmental and epileptic encephalopathy)"]
ATP6V0A2	0	[]	13	["Oxidative phosphorylation","Lysosome","Phagosome","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Tuberculosis","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling"]	0	[]
ATP6V0A4	0	[]	13	["Oxidative phosphorylation","Lysosome","Phagosome","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Tuberculosis","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling"]	0	[]

Diseases Linked via Similar Genes

Desbuquois syndrome Linked via 2 of 5 related genesTCIRG1, ATP6V0A2 Severe congenital neutropenia Linked via 1 of 5 related genesTCIRG1 Osteopetrosis Linked via 1 of 5 related genesTCIRG1 Congenital neutropenia Linked via 1 of 5 related genesTCIRG1 Dyslipidemias Linked via 1 of 5 related genesTCIRG1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Desbuquois syndrome	2	["TCIRG1","ATP6V0A2"]
Severe congenital neutropenia	1	["TCIRG1"]
Osteopetrosis	1	["TCIRG1"]
Congenital neutropenia	1	["TCIRG1"]
Dyslipidemias	1	["TCIRG1"]